view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SGCE_chr7_94579980_94661133 | 94658121 | ACTCTGAG others(38): Show |
A | upstream_gene_variant | MODIFIER | NA19072.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0220 | 1 | 388 | 0.0026 | -45 | c.-20 others(56): Show |
SGCE | ENSG00000127990.19 | transcript | ENST00000648936.2 | protein_coding | 1989 | chr7 | TogoVar | |||||||
SGCE_chr7_94579980_94661133 | 94658165 | CCCTCTGA others(38): Show |
C | upstream_gene_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0311 | 1 | 388 | 0.0026 | -45 | c.-21 others(56): Show |
SGCE | ENSG00000127990.19 | transcript | ENST00000648936.2 | protein_coding | 2033 | chr7 | TogoVar | |||||||
SGCE_chr7_94579980_94661133 | 94658192 | ACCTCTCC others(38): Show |
A | upstream_gene_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 388 | 0.0026 | -45 | c.-21 others(56): Show |
SGCE | ENSG00000127990.19 | transcript | ENST00000648936.2 | protein_coding | 2060 | chr7 | TogoVar | |||||||
SGCE_chr7_94579980_94661133 | 94658282 | ACCTCTCC others(38): Show |
A | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00609.hp1 HG00735.hp2 others(71): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 others(60): Show |
74 | 383 | 0.1932 | -45 | c.-22 others(56): Show |
SGCE | ENSG00000127990.19 | transcript | ENST00000648936.2 | protein_coding | 2150 | chr7 | TogoVar | |||||||
SGMS1_chr10_50300600_50628956 | 50562322 | GACAAACA others(38): Show |
G | intron_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0283 | 1 | 307 | 0.0033 | -45 | c.-58 others(66): Show |
SGMS1 | ENSG00000198964.14 | transcript | ENST00000361781.7 | protein_coding | 2/10 | chr10 | TogoVar | |||||||
SH2D4B_chr10_80532902_80651560 | 80533272 | TCCTCCTC others(38): Show |
T | upstream_gene_variant | MODIFIER | HG00642.hp1 HG00733.hp1 HG00733.hp2 others(17): Show |
a0001a0002a0006others(2): Show | a0001c0001a0001c0010a0001c0011others(4): Show | a0001c0001t0002a0001c0001t0021a0001c0010t0001others(9): Show | a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 others(17): Show |
20 | 178 | 0.1124 | -45 | c.-50 others(56): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 4629 | chr10 | TogoVar | |||||||
SH3BP5L_chr1_248805446_248830915 | 248820472 | GTGACCAG others(38): Show |
G | intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0110 | 1 | 410 | 0.0024 | -45 | c.184 others(62): Show |
SH3BP5L | ENSG00000175137.11 | transcript | ENST00000366472.6 | protein_coding | 2/6 | chr1 | TogoVar | |||||||
SH3RF3_chr2_109124205_109509634 | 109170239 | TTTCTTTT others(38): Show |
T | intron_variant | MODIFIER | HG02647.hp1 NA20300.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0022a0001c0005t0025 | a0001c0001t0022g0149 a0001c0005t0025g0146 |
2 | 71 | 0.0282 | -45 | c.573 others(64): Show |
SH3RF3 | ENSG00000172985.11 | transcript | ENST00000309415.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SHANK1_chr19_50654255_50724802 | 50707876 | TTTTTCTT others(38): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG01261.hp2 HG01884.hp1 others(12): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0001c0004others(6): Show | a0001c0002t0001a0001c0002t0009a0001c0002t0018others(12): Show | a0001c0002t0001g0140 a0001c0002t0009g0184 a0001c0002t0018g0128 others(12): Show |
15 | 50 | 0.3000 | -45 | c.107 others(64): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | TogoVar | |||||||
SHISAL1_chr22_44238665_44317951 | 44306533 | CTGATGAC others(38): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(202): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(72): Show | a0001c0001t0001g0107 a0001c0001t0001g0145 a0001c0001t0001g0153 others(198): Show |
205 | 299 | 0.6856 | -45 | c.-32 others(62): Show |
SHISAL1 | ENSG00000138944.8 | transcript | ENST00000381176.5 | protein_coding | 1/4 | chr22 | TogoVar | |||||||
SHISAL2B_chr5_64685503_64723190 | 64688234 | GGACAGAT others(38): Show |
G | upstream_gene_variant | MODIFIER | NA19060.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0002 | 1 | 388 | 0.0026 | -45 | c.-23 others(56): Show |
SHISAL2B | ENSG00000145642.12 | transcript | ENST00000389074.6 | protein_coding | 2268 | chr5 | TogoVar | |||||||
SIM1_chr6_100380009_100469921 | 100412534 | CTAAGAAA others(38): Show |
C | intron_variant | MODIFIER | HG02074.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0088 | 1 | 317 | 0.0032 | -45 | c.116 others(64): Show |
SIM1 | ENSG00000112246.10 | transcript | ENST00000369208.8 | protein_coding | 10/11 | chr6 | TogoVar | |||||||
SIPA1L1_chr14_71315476_71746209 | 71544250 | GTATATAC others(38): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00597.hp2 others(24): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0008others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0006others(3): Show | a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0123 others(24): Show |
27 | 172 | 0.1570 | -45 | c.-30 others(66): Show |
SIPA1L1 | ENSG00000197555.10 | transcript | ENST00000381232.8 | protein_coding | 4/23 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SIRPA_chr20_1890407_1945592 | 1937971 | TCCACCAC others(38): Show |
T | 3_prime_UTR_variant | MODIFIER | HG01891.hp2 HG02572.hp2 HG02615.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0008a0002c0002t0008 | a0001c0001t0008g0076 a0001c0001t0008g0088 a0001c0001t0008g0092 others(7): Show |
11 | 416 | 0.0264 | -45 | c.*41 others(54): Show |
SIRPA | ENSG00000198053.12 | transcript | ENST00000358771.5 | protein_coding | 8/8 | 412 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
SIX5_chr19_45759785_45774252 | 45770204 | CCAGCAGC others(38): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(98): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0014a0002c0002others(3): Show | a0001c0001t0001a0001c0014t0001a0002c0002t0001others(4): Show | a0001c0001t0001g0035 a0001c0014t0001g0034 a0002c0002t0001g0002 others(5): Show |
101 | 106 | 0.9528 | -45 | c.-14 others(56): Show |
SIX5 | ENSG00000177045.11 | transcript | ENST00000317578.7 | protein_coding | 953 | chr19 | TogoVar | |||||||
SLA_chr8_133031728_133107602 | 133063141 | GCAAACTG others(38): Show |
G | intron_variant | MODIFIER | HG01943.hp1 HG02055.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0245 a0001c0001t0007g0246 |
2 | 342 | 0.0058 | -45 | c.-40 others(62): Show |
SLA | ENSG00000155926.14 | transcript | ENST00000338087.10 | protein_coding | 2/8 | chr8 | TogoVar | |||||||
SLBP_chr4_1687731_1717319 | 1707225 | CAAAAAAA others(38): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG02809.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0203 a0001c0001t0003g0175 a0001c0001t0003g0177 |
3 | 4 | 0.7500 | -45 | c.177 others(62): Show |
SLBP | ENSG00000163950.13 | transcript | ENST00000489418.6 | protein_coding | 2/7 | chr4 | TogoVar | |||||||
SLC15A3_chr11_60932084_60957176 | 60948468 | ACACGCAG others(38): Show |
A | intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0072 | 1 | 380 | 0.0026 | -45 | c.559 others(62): Show |
SLC15A3 | ENSG00000110446.12 | transcript | ENST00000227880.8 | protein_coding | 1/7 | chr11 | TogoVar | |||||||
SLC16A12_chr10_89425299_89540594 | 89465890 | AAATGTTT others(38): Show |
A | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0199 | 1 | 290 | 0.0034 | -45 | c.-46 others(62): Show |
SLC16A12 | ENSG00000152779.14 | transcript | ENST00000371790.5 | protein_coding | 2/7 | chr10 | TogoVar | |||||||
SLC16A9_chr10_59645764_59714850 | 59681738 | TATGATGT others(38): Show |
T | intron_variant | MODIFIER | HG03139.hp2 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0314 a0001c0001t0002g0315 |
2 | 313 | 0.0064 | -45 | c.196 others(62): Show |
SLC16A9 | ENSG00000165449.12 | transcript | ENST00000395348.8 | protein_coding | 2/5 | chr10 | TogoVar | |||||||
SLC1A5_chr19_46769883_46793594 | 46785097 | AAGGCCAA others(38): Show |
A | intron_variant | MODIFIER | HG02165.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0194 | 1 | 426 | 0.0023 | -45 | c.567 others(60): Show |
SLC1A5 | ENSG00000105281.12 | transcript | ENST00000542575.6 | protein_coding | 1/7 | chr19 | TogoVar | |||||||
SLC27A2_chr15_50177196_50241385 | 50227748 | CTCCCTGA others(38): Show |
C | intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0291 | 1 | 360 | 0.0028 | -45 | c.145 others(62): Show |
SLC27A2 | ENSG00000140284.11 | transcript | ENST00000267842.10 | protein_coding | 7/9 | chr15 | TogoVar | |||||||
SLC37A1_chr21_42508852_42586426 | 42569483 | ACCTCGTG others(38): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(186): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0003a0001c0004others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(47): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(165): Show |
189 | 258 | 0.7326 | -45 | c.142 others(64): Show |
SLC37A1 | ENSG00000160190.14 | transcript | ENST00000352133.3 | protein_coding | 17/19 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
SLC38A10_chr17_81239811_81300307 | 81249265 | GGAGGAGG others(38): Show |
G | intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0019 | a0001c0019t0012 | a0001c0019t0012g0181 | 1 | 212 | 0.0047 | -45 | c.206 others(64): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | |||||||
SLC39A12_chr10_17946918_18048285 | 17956384 | TCTTAGGA others(38): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02559.hp1 HG02818.hp1 others(4): Show |
a0007a0009a0010 | a0007c0011a0007c0025a0009c0012others(1): Show | a0007c0011t0001a0007c0025t0001a0009c0012t0001others(1): Show | a0007c0011t0001g0263 a0007c0011t0001g0264 a0007c0011t0001g0265 others(4): Show |
7 | 366 | 0.0191 | -45 | c.261 others(62): Show |
SLC39A12 | ENSG00000148482.12 | transcript | ENST00000377369.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SLC39A12_chr10_17946918_18048285 | 17956417 | TATACATG others(38): Show |
T | intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0029 | a0001c0029t0003 | a0001c0029t0003g0007 | 1 | 366 | 0.0027 | -45 | c.261 others(62): Show |
SLC39A12 | ENSG00000148482.12 | transcript | ENST00000377369.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SLC39A14_chr8_22362278_22427736 | 22396494 | AGAGAGAG others(38): Show |
A | intron_variant | MODIFIER | HG02027.hp1 HG03486.hp1 |
a0001a0002 | a0001c0007a0002c0006 | a0001c0007t0006a0002c0006t0007 | a0001c0007t0006g0284 a0002c0006t0007g0215 |
2 | 319 | 0.0063 | -45 | c.-15 others(62): Show |
SLC39A14 | ENSG00000104635.15 | transcript | ENST00000359741.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SLC39A14_chr8_22362278_22427736 | 22426461 | GGGATGAC others(38): Show |
G | downstream_gene_variant | MODIFIER | HG02135.hp2 | a0003 | a0003c0001 | a0003c0001t0001 | a0003c0001t0001g0126 | 1 | 322 | 0.0031 | -45 | c.*67 others(56): Show |
SLC39A14 | ENSG00000104635.15 | transcript | ENST00000359741.10 | protein_coding | 3726 | chr8 | TogoVar | |||||||
SLC43A1_chr11_57479534_57520702 | 57517464 | GCAGGAGG others(38): Show |
G | upstream_gene_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0086 | 1 | 312 | 0.0032 | -45 | c.-20 others(56): Show |
SLC43A1 | ENSG00000149150.9 | transcript | ENST00000278426.8 | protein_coding | 1763 | chr11 | TogoVar | |||||||
SLC45A4_chr8_141202174_141313288 | 141202229 | CCCCCACC others(38): Show |
C | downstream_gene_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0089 | 1 | 186 | 0.0054 | -45 | c.*92 others(56): Show |
SLC45A4 | ENSG00000022567.10 | transcript | ENST00000517878.6 | protein_coding | 4944 | chr8 | TogoVar | |||||||
SLC45A4_chr8_141202174_141313288 | 141202249 | GGGGCGGC others(38): Show |
G | downstream_gene_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0078 | 1 | 184 | 0.0054 | -45 | c.*92 others(56): Show |
SLC45A4 | ENSG00000022567.10 | transcript | ENST00000517878.6 | protein_coding | 4924 | chr8 | TogoVar | |||||||
SLC6A3_chr5_1387794_1450440 | 1392469 | AGGGGGAC others(38): Show |
A | downstream_gene_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 371 | 0.0027 | -45 | c.*22 others(56): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 324 | chr5 | TogoVar | |||||||
SLC6A3_chr5_1387794_1450440 | 1393690 | TACACGCT others(38): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02615.hp2 HG03041.hp1 |
a0001 | a0001c0002a0001c0011 | a0001c0002t0015a0001c0011t0015 | a0001c0002t0015g0354 a0001c0011t0015g0026 |
2 | 372 | 0.0054 | -45 | c.*10 others(56): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 15/15 | 1000 | chr5 | TogoVar | ||||||
SLC9A9_chr3_143260222_143853468 | 143448921 | TATTATAA others(38): Show |
T | intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0072 | 1 | 74 | 0.0135 | -45 | c.146 others(66): Show |
SLC9A9 | ENSG00000181804.15 | transcript | ENST00000316549.11 | protein_coding | 12/15 | chr3 | TogoVar | |||||||
SLCO4A1_chr20_62637503_62677293 | 62650051 | GGGGGAAG others(38): Show |
G | intron_variant | MODIFIER | NA18946.hp1 NA19084.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0086 a0001c0001t0002g0087 |
2 | 430 | 0.0047 | -45 | c.-96 others(62): Show |
SLCO4A1 | ENSG00000101187.16 | transcript | ENST00000217159.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SLCO4A1_chr20_62637503_62677293 | 62664797 | CCCACTCT others(38): Show |
C | intron_variant | MODIFIER | HG00597.hp1 NA18955.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0002 | a0001c0001t0003g0196 a0002c0002t0002g0103 |
2 | 430 | 0.0047 | -45 | c.112 others(60): Show |
SLCO4A1 | ENSG00000101187.16 | transcript | ENST00000217159.6 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SLFN11_chr17_35345305_35378621 | 35376928 | TGATATGT others(38): Show |
T | upstream_gene_variant | MODIFIER | HG03195.hp2 | a0007 | a0007c0010 | a0007c0010t0021 | a0007c0010t0021g0184 | 1 | 464 | 0.0022 | -45 | c.-37 others(56): Show |
SLFN11 | ENSG00000172716.17 | transcript | ENST00000685675.1 | protein_coding | 3308 | chr17 | TogoVar | |||||||
SLIT1_chr10_96993038_97190959 | 97141691 | CGTATCGT others(38): Show |
C | intron_variant | MODIFIER | HG02258.hp1 HG02559.hp1 HG02630.hp2 others(4): Show |
a0001 | a0001c0001a0001c0005a0001c0017others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0023others(3): Show | a0001c0001t0001g0178 a0001c0001t0001g0247 a0001c0001t0002g0224 others(4): Show |
7 | 254 | 0.0276 | -45 | c.413 others(64): Show |
SLIT1 | ENSG00000187122.17 | transcript | ENST00000266058.9 | protein_coding | 4/36 | chr10 | TogoVar | |||||||
SLIT1_chr10_96993038_97190959 | 97141726 | TGTACTGT others(38): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00639.hp2 HG01243.hp1 others(57): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(21): Show | a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0010 others(57): Show |
60 | 254 | 0.2362 | -45 | c.413 others(64): Show |
SLIT1 | ENSG00000187122.17 | transcript | ENST00000266058.9 | protein_coding | 4/36 | chr10 | TogoVar | |||||||
SLIT2_chr4_20246905_20625561 | 20291464 | ATATATAT others(38): Show |
A | intron_variant | MODIFIER | HG00609.hp2 HG00639.hp2 HG01167.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0011a0001c0001t0026a0001c0001t0032others(7): Show | a0001c0001t0011g0014 a0001c0001t0011g0016 a0001c0001t0011g0017 others(10): Show |
13 | 227 | 0.0573 | -45 | c.395 others(64): Show |
SLIT2 | ENSG00000145147.20 | transcript | ENST00000504154.6 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLIT2_chr4_20246905_20625561 | 20291466 | ATATATAT others(38): Show |
A | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0003 | a0001c0003t0027 | a0001c0003t0027g0028 | 1 | 225 | 0.0044 | -45 | c.395 others(64): Show |
SLIT2 | ENSG00000145147.20 | transcript | ENST00000504154.6 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLX9_chr21_44935029_44981973 | 44943783 | GTCAGGAG others(38): Show |
G | splice_donor_variant others(3): Show |
HIGH | HG04115.hp2 | a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0099 | 1 | 332 | 0.0030 | -45 | c.254 others(55): Show |
p.Ala others(11): Show |
SLX9 | ENSG00000160256.14 | transcript | ENST00000291634.11 | protein_coding | 2/6 | 283/892 | 254/693 | 85/230 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||
SMIM10L1_chr12_11166194_11181016 | 11168299 | AGAAGGAA others(38): Show |
A | upstream_gene_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0000 | 1 | 323 | 0.0031 | -45 | c.-30 others(56): Show |
SMIM10L1 | ENSG00000256537.5 | transcript | ENST00000622602.2 | protein_coding | 2894 | chr12 | TogoVar | |||||||
SMIM2_chr13_44138150_44166257 | 44142132 | CCTCGGCT others(38): Show |
C | downstream_gene_variant | MODIFIER | HG00733.hp1 HG01243.hp2 HG02559.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0002g0002 others(7): Show |
13 | 14 | 0.9286 | -45 | c.*17 others(56): Show |
SMIM2 | ENSG00000139656.8 | transcript | ENST00000400419.2 | protein_coding | 1017 | chr13 | TogoVar | |||||||
SNRPN_chr15_24949987_24983723 | 24971029 | CTTGGCCA others(38): Show |
C | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 344 | 0.0029 | -45 | c.-14 others(64): Show |
SNRPN | ENSG00000128739.23 | transcript | ENST00000390687.9 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SNTB2_chr16_69182164_69314052 | 69255303 | CTGTAACC others(38): Show |
C | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0053 | 1 | 216 | 0.0046 | -45 | c.795 others(62): Show |
SNTB2 | ENSG00000168807.17 | transcript | ENST00000336278.9 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1056551 | GGGAGAGC others(38): Show |
G | intron_variant | MODIFIER | HG02895.hp2 | a0007 | a0007c0017 | a0007c0017t0001 | a0007c0017t0001g0106 | 1 | 188 | 0.0053 | -45 | c.73- others(62): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNURF_chr15_24949987_24973821 | 24971029 | CTTGGCCA others(38): Show |
C | downstream_gene_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 384 | 0.0026 | -45 | c.*29 others(56): Show |
SNURF | ENSG00000273173.6 | transcript | ENST00000577949.6 | protein_coding | 2209 | chr15 | TogoVar | |||||||
SNX25_chr4_185204598_185368966 | 185222069 | TAGGTATA others(38): Show |
T | intron_variant | MODIFIER | NA18906.hp2 | a0012 | a0012c0017 | a0012c0017t0001 | a0012c0017t0001g0049 | 1 | 274 | 0.0036 | -45 | c.429 others(64): Show |
SNX25 | ENSG00000109762.17 | transcript | ENST00000652585.2 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SNX8_chr7_2246770_2319441 | 2260007 | AAAGAGAG others(38): Show |
A | intron_variant | MODIFIER | NA18981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0277 | 1 | 368 | 0.0027 | -45 | c.916 others(62): Show |
SNX8 | ENSG00000106266.11 | transcript | ENST00000222990.8 | protein_coding | 7/10 | chr7 | TogoVar |